Fetal hypoxia is associated with decreased placental perfusion and liver blood supply. However, glucose uptake was not significantly decreased in the placenta and liver.

Prenatal diagnosis of trisomy 7 is complex due to only a few reported cases. We report here on a stillborn boy with very large duplication of 7q11.22 --> qter, encompassing almost the entire long arm of chromosome 7. Ultrasound, fetal and parental chromosome banding, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (CGH) analyses were performed. Sonographic findings included growth retardation, micrognathia, ventricular septal defect (VSD), aortic coarctation, bradyarrhythmia, pericardial effusion, bilateral hydronephrosis, infravesical obstruction, and cerebellar hypoplasia. Chromosome analysis after cordocentesis at 23 weeks of gestation revealed an abnormal male karyotype with 46 chromosomes and a derivative chromosome 7 with a very large duplication of the long arm, 46,XY,der(7)(qter --> q11.2::p22 --> qter). The mother was found to carry an apparently balanced pericentric inversion, 46,XX,inv(7)(p22q11.2). Thus, the recombinant chromosome 7 [rec(7)dup(7q)inv(7)(p22.3q11.22)mat] of the fetus must have arisen through meiotic crossing-over between the inverted chromosome and the normal chromosome 7 in the maternal germline. FISH and array CGH results confirmed the recombinant chromosome 7 in the fetus and indicated a loss of 1.9 Mb at chromosome 7pter --> p22.3 (pter to 1,948,072 bp), and a gain of 87.04 Mb at chromosome 7q11.22 --> qter (71,760,154 bp to qter). The rare syndrome of almost complete trisomy 7q may be suspected in cases of growth retardation, cerebellar hypoplasia, micrognathia, aortic coarctation and VSD and hydronephrosis. Invasive prenatal diagnosis must be offered to the parents.

Background: The classic mid-trimester preterm premature rupture of membranes (PPROM) is defined as a rupture of the fetal membranes prior to 28 weeks of gestation (WG) with oligo/anhydramnion; it complicates approximately 0.4–0.7% of all pregnancies and is associated with very high neonatal mortality and morbidity. Antibiotics have limited success to prevent bacterial growth, chorioamnionitis and fetal inflammation. The repetitive amnioinfusion does not work because fluid is lost immediately after the intervention. The continuous amnioinfusion through the transabdominal port system or catheter in patients with classic PPROM shows promise by flushing out the bacteria and inflammatory components from the amniotic cavity, replacing amniotic fluid and thus prolonging the PPROM-to-delivery interval. Objective: This multicenter trial aims to test the effect of continuous amnioinfusion on the neonatal survival without the typical major morbidities, such as severe bronchopulmonary dysplasia, intraventricular hemorrhage, cystic periventricular leukomalacia and necrotizing enterocolitis one year after the delivery. Study Design: We plan to conduct a randomized multicenter trial with a two-arm parallel design. Randomization will be between 22/0 and 26/0 SSW. The control group: PPROM patients between 20/0 and 26/0 WG who will be treated with antibiotics and corticosteroids (from 22/0 SSW) in accordance with the guidelines of German Society of Obstetrics and Gynecology (standard PPROM therapy). In the interventional group, the standard PPROM therapy will be complemented with the Amnion Flush Method, with the amnioinfusion of Amnion Flush Solution through the intra-amnial catheter (up to 100 mL/h, 2400 mL/day). Subjects: The study will include 68 patients with classic PPROM between 20/0 and 26/0 WG. TRIAL-registration: ClinicalTrials.gov ID: NCT04696003. German Clinical Trials Register: DRKS00024503, January 2021.

Accurate prediction of the likelihood of survival shortly after fetoscopic endoluminal tracheal occlusion (FETO) for the treatment of severe congenital diaphragmatic hernia (CDH) might help some parents decide whether to continue or terminate a pregnancy. We evaluated differences in fractional moving blood volume (FMVB) of the lung in fetuses with CDH treated with FETO, and their association with outcome. Methods: FMVB was evaluated in 24 fetuses 7 days before and 10-14 days after FETO. The percentage change between measurements was used to calculate ROC curves and likelihood ratios for the prediction of survival after tracheal occlusion. All cases were followed up until the neonatal period. Results: Fifteen cases (15/24) survived after the neonatal period (62.5%). The percentage change in FMVB was significantly greater in survivors than non-survivors (52.4% (SD 43.5%) vs. 8.9% (SD 18.9%), P = 0.01). The area under the ROC curve for survival was 0.852 (95% CI, 0.696-1.008). A positive test was defined as a change in percentage of 23.5% or more. The test was positive in 12/15 survivors and 1/9 non-survivors (sensitivity 80%, specificity 88.8%, PPV 92.3%, NPV 72.7%, positive LR 4.44). Conclusions: Changes in the fetal lung blood perfusion measured with FMBV after FETO might be incorporated into composite scores to establish the likelihood of survival shortly after treatment in CDH fetuses treated with FETO.

No abstract